rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
|
11388593 |
2001 |
rs150726932
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
|
11388593 |
2001 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
|
10874306 |
2000 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
|
10220141 |
1999 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.
|
10531334 |
1999 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
|
10585341 |
1999 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
|
9450907 |
1998 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
|
9222757 |
1997 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.
|
9159737 |
1997 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
|
8707300 |
1996 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
|
7493990 |
1995 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
|
7698774 |
1994 |
rs150726932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
|
8178819 |
1994 |